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Gene: PITHD1 |
Gene summary for PITHD1 |
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Gene information | Species | Human | Gene symbol | PITHD1 | Gene ID | 57095 |
Gene name | PITH domain containing 1 | |
Gene Alias | C1orf128 | |
Cytomap | 1p36.11 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q9GZP4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57095 | PITHD1 | LZE4T | Human | Esophagus | ESCC | 1.15e-14 | 2.45e-01 | 0.0811 |
57095 | PITHD1 | LZE5T | Human | Esophagus | ESCC | 1.11e-03 | 4.33e-02 | 0.0514 |
57095 | PITHD1 | LZE8T | Human | Esophagus | ESCC | 1.98e-02 | -1.27e-01 | 0.067 |
57095 | PITHD1 | LZE20T | Human | Esophagus | ESCC | 2.16e-11 | 4.52e-01 | 0.0662 |
57095 | PITHD1 | LZE22D1 | Human | Esophagus | HGIN | 1.73e-04 | 1.06e-01 | 0.0595 |
57095 | PITHD1 | LZE24T | Human | Esophagus | ESCC | 1.29e-28 | 7.63e-01 | 0.0596 |
57095 | PITHD1 | P1T-E | Human | Esophagus | ESCC | 1.51e-06 | 6.01e-01 | 0.0875 |
57095 | PITHD1 | P2T-E | Human | Esophagus | ESCC | 1.09e-44 | 9.23e-01 | 0.1177 |
57095 | PITHD1 | P4T-E | Human | Esophagus | ESCC | 9.47e-32 | 8.40e-01 | 0.1323 |
57095 | PITHD1 | P5T-E | Human | Esophagus | ESCC | 1.07e-11 | 2.73e-01 | 0.1327 |
57095 | PITHD1 | P8T-E | Human | Esophagus | ESCC | 2.56e-26 | 5.85e-01 | 0.0889 |
57095 | PITHD1 | P9T-E | Human | Esophagus | ESCC | 3.38e-09 | 2.74e-01 | 0.1131 |
57095 | PITHD1 | P10T-E | Human | Esophagus | ESCC | 3.92e-53 | 9.76e-01 | 0.116 |
57095 | PITHD1 | P11T-E | Human | Esophagus | ESCC | 1.24e-14 | 8.14e-01 | 0.1426 |
57095 | PITHD1 | P12T-E | Human | Esophagus | ESCC | 1.56e-33 | 6.81e-01 | 0.1122 |
57095 | PITHD1 | P15T-E | Human | Esophagus | ESCC | 2.70e-35 | 7.89e-01 | 0.1149 |
57095 | PITHD1 | P16T-E | Human | Esophagus | ESCC | 1.54e-26 | 4.64e-01 | 0.1153 |
57095 | PITHD1 | P17T-E | Human | Esophagus | ESCC | 3.92e-07 | 4.89e-01 | 0.1278 |
57095 | PITHD1 | P19T-E | Human | Esophagus | ESCC | 1.28e-06 | 1.06e+00 | 0.1662 |
57095 | PITHD1 | P20T-E | Human | Esophagus | ESCC | 6.64e-34 | 8.32e-01 | 0.1124 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004563720 | Oral cavity | OSCC | regulation of myeloid cell differentiation | 106/7305 | 210/18723 | 4.58e-04 | 2.76e-03 | 106 |
GO:004563910 | Oral cavity | OSCC | positive regulation of myeloid cell differentiation | 55/7305 | 103/18723 | 2.10e-03 | 9.64e-03 | 55 |
GO:00447067 | Oral cavity | OSCC | multi-multicellular organism process | 105/7305 | 220/18723 | 5.05e-03 | 1.97e-02 | 105 |
GO:0010498110 | Oral cavity | LP | proteasomal protein catabolic process | 224/4623 | 490/18723 | 9.57e-25 | 4.00e-22 | 224 |
GO:0042176110 | Oral cavity | LP | regulation of protein catabolic process | 177/4623 | 391/18723 | 3.00e-19 | 5.87e-17 | 177 |
GO:1903362110 | Oral cavity | LP | regulation of cellular protein catabolic process | 119/4623 | 255/18723 | 1.52e-14 | 1.76e-12 | 119 |
GO:1903050110 | Oral cavity | LP | regulation of proteolysis involved in cellular protein catabolic process | 101/4623 | 221/18723 | 7.00e-12 | 5.48e-10 | 101 |
GO:0061136110 | Oral cavity | LP | regulation of proteasomal protein catabolic process | 89/4623 | 187/18723 | 8.05e-12 | 6.15e-10 | 89 |
GO:0030099110 | Oral cavity | LP | myeloid cell differentiation | 130/4623 | 381/18723 | 1.94e-05 | 3.27e-04 | 130 |
GO:190370619 | Oral cavity | LP | regulation of hemopoiesis | 111/4623 | 367/18723 | 8.48e-03 | 4.60e-02 | 111 |
GO:004217618 | Prostate | BPH | regulation of protein catabolic process | 139/3107 | 391/18723 | 3.71e-20 | 3.28e-17 | 139 |
GO:001049818 | Prostate | BPH | proteasomal protein catabolic process | 153/3107 | 490/18723 | 4.13e-16 | 7.51e-14 | 153 |
GO:190336218 | Prostate | BPH | regulation of cellular protein catabolic process | 93/3107 | 255/18723 | 1.06e-14 | 1.40e-12 | 93 |
GO:190305018 | Prostate | BPH | regulation of proteolysis involved in cellular protein catabolic process | 80/3107 | 221/18723 | 1.20e-12 | 1.02e-10 | 80 |
GO:003009918 | Prostate | BPH | myeloid cell differentiation | 115/3107 | 381/18723 | 2.22e-11 | 1.51e-09 | 115 |
GO:006113618 | Prostate | BPH | regulation of proteasomal protein catabolic process | 67/3107 | 187/18723 | 1.34e-10 | 7.74e-09 | 67 |
GO:190370616 | Prostate | BPH | regulation of hemopoiesis | 97/3107 | 367/18723 | 1.01e-06 | 1.83e-05 | 97 |
GO:004563718 | Prostate | BPH | regulation of myeloid cell differentiation | 62/3107 | 210/18723 | 1.99e-06 | 3.30e-05 | 62 |
GO:00447066 | Prostate | BPH | multi-multicellular organism process | 59/3107 | 220/18723 | 8.01e-05 | 7.66e-04 | 59 |
GO:00456399 | Prostate | BPH | positive regulation of myeloid cell differentiation | 29/3107 | 103/18723 | 2.20e-03 | 1.22e-02 | 29 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PITHD1 | SNV | Missense_Mutation | c.547G>A | p.Glu183Lys | p.E183K | Q9GZP4 | protein_coding | tolerated(0.23) | benign(0.034) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
PITHD1 | SNV | Missense_Mutation | c.247N>G | p.Thr83Ala | p.T83A | Q9GZP4 | protein_coding | deleterious(0.02) | probably_damaging(0.93) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
PITHD1 | SNV | Missense_Mutation | rs763501501 | c.491C>T | p.Thr164Met | p.T164M | Q9GZP4 | protein_coding | deleterious(0.04) | possibly_damaging(0.9) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PITHD1 | SNV | Missense_Mutation | novel | c.347N>G | p.Phe116Cys | p.F116C | Q9GZP4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PITHD1 | SNV | Missense_Mutation | novel | c.211G>T | p.Asp71Tyr | p.D71Y | Q9GZP4 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PITHD1 | SNV | Missense_Mutation | c.253N>G | p.Asn85Asp | p.N85D | Q9GZP4 | protein_coding | tolerated(0.09) | benign(0.081) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PITHD1 | SNV | Missense_Mutation | c.454N>A | p.Leu152Ile | p.L152I | Q9GZP4 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PITHD1 | SNV | Missense_Mutation | rs757948298 | c.434N>A | p.Arg145His | p.R145H | Q9GZP4 | protein_coding | deleterious(0.05) | probably_damaging(0.978) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PITHD1 | SNV | Missense_Mutation | c.542N>A | p.Arg181Gln | p.R181Q | Q9GZP4 | protein_coding | tolerated(0.09) | benign(0.133) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PITHD1 | SNV | Missense_Mutation | rs763501501 | c.491C>T | p.Thr164Met | p.T164M | Q9GZP4 | protein_coding | deleterious(0.04) | possibly_damaging(0.9) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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